Genética humana y reproducción

Revista Internacional

A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice

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Impact of continuous glucose monitoring on pregnancy outcomes in women with pregestational diabetes

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A Detailed Exploration of the Ex Utero Intrapartum Treatment Procedure with Center-Specific Advancements

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Assessing the impact of pregnancy planning on obstetric and perinatal outcomes in women with pregestational diabetes mellitus

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Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis

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Bioinformatics Prediction for Network-Based Integrative Multi-Omics Expression Data Analysis in Hirschsprung Disease

Revista Internacional

Delving into the Role of lncRNAs in Papillary Thyroid Cancer: Upregulation of LINC00887 Promotes Cell Proliferation, Growth and Invasion

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Insights into neurosonographic indications for prenatal diagnosis of fetal neurological anomalies and cortical development: A systematic review of the literature

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Long-Term Neurodevelopmental Outcome After Selective Fetoscopic Laser Therapy for Stage I Twin-Twin Transfusion Syndrome

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Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene

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A crowdsourcing database for the copy-number variation of the Spanish population

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Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant

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Exploring the Potential of AI Language Models in Obstetrics with a Focus on Fetal Medicine: An Evaluation of the Perplexity AI Model

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Genetic profile in patients with complicated acute aortic syndrome: the GEN-AOR study

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Identification of Novel Candidate Genes for Familial Thyroid Cancer by Whole Exome Sequencing

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Maternal and Neonatal Outcomes After Ex-Utero Intrapartum Treatment for Congenital Diaphragmatic Hernia: A Case Series

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Maternal and obstetric outcomes after Ex-Utero Intrapartum Treatment (EXIT): a single center experience

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Prenatal diagnosis of VACTERL association after early-first trimester SARS-COV-2 infection

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Two Year Neurodevelopmental Outcome after Fetoscopic Laser Therapy for Twin-Twin Transfusion Syndrome: Comparison with Uncomplicated Monochorionic Diamniotic Twins

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A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies

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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

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Mode of delivery, perinatal outcome and neurodevelopment in uncomplicated monochorionic diamniotic twins: a single-center retrospective cohort study

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Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient

Revista Internacional

Antenatal diagnosis of jejunal atresia by 3D HDlive ultrasound: Case report and literature review

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CSVS, a crowdsourcing database of the Spanish population genetic variability

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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

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Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system development

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Identification of a PROM1 mutation in a Spanish family with inherited retinal dystrophies

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Maternal effects induced by oral digoxin during treatment of fetal tachyarrhythmia: Case series and literature review

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Perinatal palliative care: from fetal to neonatal life

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RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer

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Unusual Clinical Phenotype of Stargardt Disease

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X-linked Retinoschisis Associated with Retinitis Punctata Albescens Caused by a Mutation in the RS1 Gene: A Family Study

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A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification

Martin-Sanchez, M; Bravo-Gil, N; Gonzalez-del Pozo, M; Mendez-Vidal, C; Fernandez-Suarez, E; Rodriguez-de la Rua, E; Borrego, S; Antinolo, G

Revista Internacional

Artificial Intelligence in Pregnancy: A Scoping Review

Oprescu, AM; Miro-Amarante, G; Garcia-Diaz, L; Beltran, LM; Rey, VE; Romero-Ternero, M

Revista Internacional

Ex-Utero Intrapartum Treatment (EXIT): indications and outcome in fetal cervical and oropharyngeal masses

Garcia-Diaz, L; Chimenea, A; de Agustin, JC; Pavon, A; Antinolo, G

Revista Internacional

Prenatal diagnostic techniques and IVF in patients with coagulopathies

Garcia-Lozano, JC; Lozano-Arana, MD

Revista Internacional

Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

Gonzalez-del Pozo, M; Fernandez-Suarez, E; Martin-Sanchez, M; Bravo-Gil, N; Mendez-Vidal, C; Rodriguez-de La Rua, E; Borrego, S; Antinolo, G

Revista Internacional

Epigenetic Mechanisms in Hirschsprung Disease.

Torroglosa A, Villalba-Benito L, Luzón-Toro B, Fernández RM, Antiñolo G, Borrego S

Revista Internacional

Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report.

Bravo-Gil N, Marcos I, González-Meneses A, Antiñolo G, Borrego S

Revista Internacional

Giant right atrial aneurysm. Prenatal diagnosis and outcome of a rare congenital abnormality.

Chimenea Á, García-Díaz L, Moreno-De Las Heras M, Coserria F, Antiñolo G

Revista Internacional

Identification of new long non-coding RNAs associated with medullary thyroid cancer.

Luzón Toro B, Fernández García RM, Martos Martínez JM, Antiñolo G, Borrego S

Revista Internacional

Influencers on Thyroid Cancer Onset: Molecular Genetic Basis.

Luzón-Toro B, Fernández RM, Villalba-Benito L, Torroglosa A, Antiñolo G, Borrego S .

Revista Internacional

LncRNA LUCAT1 as a novel prognostic biomarker for patients with papillary thyroid cancer.

Luzón-Toro B, Fernández RM, Martos-Martínez JM, Rubio-Manzanares-Dorado M, Antiñolo G, Borrego S

Revista Internacional

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.

Mavillard F, Madruga-Garrido M, Rivas E, Servián-Morilla E, Ávila-Polo R, Marcos I, Morón FJ, Paradas C, Cabrera-Serrano M

Revista Internacional

Posterior microphthalmos, retinitis pigmentosa, and foveoschisis caused by a mutation in the MFRP gene: a familial study.

Morillo Sánchez MJ, Llavero Valero P, González-Del Pozo M, Ponte Zuñiga B, Antiñolo G, Ramos Jiménez M, Rodríguez De La Rúa Franch E

Revista Internacional

What are Telling us Genetics, Epigenetics and Environment of an Individual with Thyroid Cancer?

Luzón Toro B, Fernández García RM, Torroglosa A, Villalba Benito L, Antiñolo G, Borrego S

Revista Internacional

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J, Rett Working Group

Revista Internacional

MLL-rearranged acute myeloid leukemia: Influence of the genetic partner in allo-HSCT response and prognostic factor of MLL 3' region mRNA expression.

Burillo-Sanz S, Morales-Camacho RM, Caballero-Velázquez T, Carrillo E, Sánchez J, Pérez-López O, Pérez de Soto I, González Campos J, Prats-Martín C, Bernal R, Vargas MT.

Revista Internacional

Resolution of maternal Mirror syndrome after succesful fetal intrauterine therapy: a case series.

Chimenea A, García-Díaz L, Calderón AM, Heras MML, Antiñolo G.

Revista Internacional

Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation.

Delgado Pecellín I, Pérez Ruiz E, Álvarez Ríos AI, Delgado Pecellín C, Yahyaoui Macías R, Carrasco Hernández L, Marcos Luque I, Caro Aguilera P, Moreno Valera MJ, Quintana Gallego ME.

Revista Internacional

Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing

. González-Del Pozo M, Martín-Sánchez M, Bravo-Gil N, Méndez-Vidal C, Chimenea Á, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.

Revista Internacional

Dnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novo methyltransferase is involved in the enteric nervous system development and the onset of Hirschsprung disease.

Torroglosa A, Villalba-Benito L, Fernández RM, Moya-Jiménez MJ, Antiñolo G, Borrego S.

Revista Internacional

ESR2 Gene and Medullary Thyroid Carcinoma.

Ruiz-Ferrer M, Fernández RM, Navarro E, Antiñolo G, Borrego S.

Revista Internacional

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.

Vieitez I, Gallano P, González-Quereda L, Borrego S, Marcos I, Millán JM, Jairo T, Prior C, Molano J, Trujillo-Tiebas MJ, Gallego-Merlo J, García-Barcina M, Fenollar M, Navarro C.

Revista Internacional

Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease.

Villalba-Benito L, Torroglosa A, Fernández RM, Ruíz-Ferrer M, Moya-Jiménez MJ, Antiñolo G, Borrego S.

Revista Internacional

Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients.

Fernández RM, Lozano-Arana MD, Sánchez B, Peciña A, García-Lozano JC, Borrego S, Antiñolo G.

Revista Internacional

TGA+VSD and Subpulmonary Conus: From Fetus to a 3-dimensional Model

Manso B, García-Díaz L, Valverde I.

Revista Internacional

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J, Rett Working Group.

Libro o artículo

Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy

. Fernández-Perea Y, García-Díaz L, Sánchez J, Antiñolo G, Borrego S.

Revista Internacional

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.

Bravo-Gil N, González-Del Pozo M, Martín-Sánchez M, Méndez-Vidal C, Rodríguez-de la Rúa E, Borrego S, Antiñolo G.

Revista Internacional

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.

Gui H, Schriemer D, Cheng WW, Chauhan RK, Antiňolo G, Berrios C, Bleda M, Brooks AS, Brouwer RW, Burns AJ, Cherny SS, Dopazo J, Eggen BJ, Griseri P, Jalloh B, Le TL, Lui VC, Luzón-Toro B, Matera I, Ngan ES, Pelet A, Ruiz-Ferrer M, Sham PC, Shepherd IT, So MT, Sribudiani Y, Tang CS, van den Hout MC, van der Linde HC, van Ham TJ, van IJcken WF, Verheij JB, Amiel J, Borrego S, Ceccherini I, Chakravarti A, Lyonnet S, Tam PK, Garcia-Barceló MM, Hofstra RM.

Revista Internacional

Aortopulmonary Window with Atrial Septal Defect: Prenatal Diagnosis, Management and Outcome.

Alvarez R, García-Díaz L, Coserria F, Hosseinpour R, Antiñolo G.

Revista Internacional

Copy-Number Variations in EYS: A Significant Event in the Appearance of arRP.

Pieras JI, Barragán I, Borrego S, Audo I, González-Del Pozo M, Bernal S, Baiget M, Zeitz C, Bhattacharya SS, Antiñolo G.

Revista Internacional

Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR.

Ruiz-Ferrer M, Torroglosa A, Núñez-Torres R, de Agustín JC, Antiñolo G, Borrego S.

Revista Internacional

Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

González-del Pozo M, Borrego S, Barragán I, Pieras JI, Santoyo J, Matamala N, Naranjo B, Dopazo J, Antiñolo G.

Revista Internacional

Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease.

Ruiz-Ferrer M, Torroglosa A, Luzón-Toro B, Fernández RM, Antiñolo G, Mulligan LM, Borrego S.

Revista Internacional

Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male.

Pieras JI, Muñoz-Cabello B, Borrego S, Marcos I, Sanchez J, Madruga M, Antiñolo G.

Revista Internacional

Diagnosis and management of fetal intrapericardial Morgagni diaphragmatic hernia with massive pericardial effussion.

Antiñolo G, De Agustin JC, Losada A, Marenco ML, Garcia-Diaz L, Morcillo J.

Revista Internacional

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borr

Revista Internacional

EYS is a major gene for rod-cone dystrophies in France.

Audo I, Sahel JA, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C.

Revista Internacional

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.

Abd El-Aziz MM, O'Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Antiñolo G, Pang CP, Webster AR, Bhattacharya SS.

Revista Internacional

Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient.

Sánchez-Mejías A, Watanabe Y, M Fernández R, López-Alonso M, Antiñolo G, Bondurand N, Borrego S.

Revista Internacional

Microarray-based mutation analysis of 183 Spanish families suffering from Usher syndrome.

Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernandez A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millan JM.

Revista Internacional

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

Barragán I, Borrego S, Pieras JI, González-del Pozo M, Santoyo J, Ayuso C, Baiget M, Millan JM, Mena M, El-Aziz MM, Audo I, Zeitz C, Littink KW, Dopazo J, Bhattacharya SS, Antiñolo G.

Revista Internacional

New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease.

Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G, Borrego S.

Revista Internacional

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.

Sánchez-Mejías A, Núñez-Torres R, Fernández RM, Antiñolo G, Borrego S.

Revista Internacional

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.

Fernández RM, Núñez-Torres R, González-Meneses A, Antiñolo G, Borrego S.

Revista Internacional

One-step multiplex polymerase chain reaction for preimplantation genetic diagnosis of Huntington disease.

Peciña A, Lozano Arana MD, García-Lozano JC, Borrego S, Antiñolo G

Revista Internacional

A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease.

Fernández RM, Sánchez-Mejías A, Mena MD, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S

Revista Internacional

A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique.

Núñez-Torres R, Fernández RM, López-Alonso M, Antiñolo G, Borrego S

Revista Internacional

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.

Valverde D, Pereiro I, Vallespín E, Ayuso C, Borrego S, Baiget M

Revista Internacional

Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family.

Sánchez-Mejías A, Fernández RM, López-Alonso M, Antiñolo G, Borrego S

Revista Internacional

Diagnosis and management of a large oropharyngeal teratoma (epignathus) in a twin pregnancy.

Antiñolo G, de Agustín JC, Losada A, Ontanilla A, Perla AG

Revista Internacional

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A

Revista Internacional

Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B?

Fernández RM, Sánchez-Mejías A, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S

Libro o artículo

Is the RET proto-oncogene involved in the pathogenesis of intestinal neuronal dysplasia type B? (1)

Fernández RM, Sánchez-Mejías A, Ruiz-Ferrer M, López-Alonso M, Antiñolo G, Borrego S.

Revista Internacional

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E, Peciña A, Antiñolo G, Galán E, Rosa AL, Fernández-Burriel M, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF

Revista Internacional

The RET functional variant c 587T>C is not associated with susceptibility to sporadic medullary thyroid cancer.

Fernández RM, Sánchez-Mejías A, Navarro E, López-Alonso M, Antiñolo G, Borrego S

Revista Internacional

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.

Abd El-Aziz MM, Barragan I, O'Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G

Revista Internacional

Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.

Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G

Revista Internacional

Hirschsprung disease, associated syndromes and genetics: a review.

Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R,

Revista Internacional

Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.

Abd El-Aziz MM, Barragan I, O'Driscoll C, Borrego S, Abu-Safieh L, Pieras JI, El-Ashry MF, Prigmore E, Carter N, Antinolo G, Bhattacharya SS

Revista Internacional

Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.

Barragán I, Abd El-Aziz MM, Borrego S, El-Ashry MF, O'Driscoll C, Bhattacharya SS, Antiñolo G

Revista Internacional

NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease.

Ruiz-Ferrer M, Fernandez RM, Antiñolo G, Lopez-Alonso M, Borrego S

Revista Internacional

Polymorphisms in the genes encoding the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to Hirschsprung disease.

Fernandez RM, Ruiz-Ferrer M, Lopez-Alonso M, Antiñolo G, Borrego S

Revista Internacional

Provision and quality assurance of preimplantation genetic diagnosis in Europe.

Corveleyn A, Morris MA, Dequeker E, Sermon K, Davies JL, Antiñolo G, Schmutzler A, Vanecek J, Nagels N, Zika E, Palau F, Ibarreta D

Revista Internacional

Spanish stem cell bank interviews examine the interest of couples in donating surplus human IVF embryos for stem cell research.

Cortes JL, Antiñolo G, Martínez L, Cobo F, Barnie A, Zapata A, Menendez P

Revista Internacional

A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa.

Abd El-Aziz MM, El-Ashry MF, Chan WM, Chong KL, Barragan I, Antiñolo G, Pang CP, Bhattacharya SS

Revista Internacional

Analysis of the -844C > T polymorphism in the promoter region of FASLgene in a cohort of Spanish HCV patients.

Ruiz-Ferrer M, Antiñolo G, Aguilar-Reina J

Revista Internacional

Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.

Valverde D, Riveiro-Alvarez R, Aguirre-Lamban J, Baiget M, Carballo M, Antiñolo G, Millán JM, Garcia Sandoval B, Ayuso C

Revista Internacional

Two sets of monozygotic twins after intracytoplasmic sperm injection and transfer of two embryos on day 2.

Carrillo-Vadillo R, García-Lozano JC, Lozano Arana MD, Moliní Rivera JL, Sánchez Martín P, Antiñolo G

Revista Internacional

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.

Ruiz-Ferrer M, Fernández RM, Antiñolo G, López-Alonso M, Eng C, Borrego S

Revista Internacional

Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma.

Fernández RM, Peciña A, Antiñolo G, Navarro E, Borrego S

Revista Internacional

Evaluation of the role of RET polymorphisms/haplotypes as modifier loci for MEN 2, and analysis of the correlation with the type of RET mutation in a series of Spanish patients.

Fernández RM, Navarro E, Antiñolo G, Ruiz-Ferrer M, Borrego S

Revista Internacional

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.

Aller E, Jaijo T, Beneyto M, Nájera C, Oltra S, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Collado D, Pérez-Garrigues H, Navea A, Millán JM

Revista Internacional

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millán JM

Revista Internacional

Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer.

Marcos I, Borrego S, Urioste M, García-Vallés C, Antiñolo G

Revista Internacional

Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

Gamundi MJ, Hernan I, Martínez-Gimeno M, Maseras M, García-Sandoval B, Ayuso C, Antiñolo G, Baiget M, Carballo M

Revista Internacional

Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.

Fernandez RM, Boru G, Peciña A, Jones K, López-Alonso M, Antiñolo G, Borrego S, Eng C

Revista Internacional

Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa.

Abd El-Aziz MM, Patel RJ, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS

Revista Internacional

Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa.

Barragan I, Marcos I, Borrego S, Antiñolo G

Revista Internacional

Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.

Abd El-Aziz MM, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS

Revista Internacional

Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa.

Barragan I, Marcos I, Borrego S, Antiñolo G

Revista Internacional

Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis.

Fernández RM, Noval JA, García-Lozano JC, Borrego S, Moliní JL, Antiñolo G

Revista Internacional

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A

Revista Internacional

Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.

Gamundi MJ, Hernan I, Maseras M, Baiget M, Ayuso C, Borrego S, Antiñolo G, Millán JM, Valverde D, Carballo M

Revista Internacional

Spanish family with myalgia and cramps syndrome.

Sánchez-Arjona MB, Rodríguez-Uranga JJ, Giles-Lima M, Fernández-García R, Chinchón-Lara I, Antiñolo G, Bautista-Lorite J

Revista Internacional

The -670A > G polymorphism in the promoter region of the FAS gene is associated with necrosis in periportal areas in patients with chronic hepatitis C.

Aguilar-Reina J, Ruiz-Ferrer M, Pizarro MA, Antiñolo G

Revista Internacional

Analysis of CCR5-Delta 32 and CCR2-V64I polymorphisms in a cohort of Spanish HCV patients using real-time polymerase chain reaction and fluorescence resonance energy transfer technologies.

Ruiz-Ferrer M, Barroso N, Antiñolo G, Aguilar-Reina J

Revista Internacional

Analysis of the involvement of CCR5-Delta32 and CCR2-V64I variants in the development of endometriosis.

Antiñolo G, Fernández RM, Noval JA, Moliní JL, Borrego S

Revista Internacional

Labor induction with dinoprostone or oxytocine and postpartum disseminated intravascular coagulation: a hospital-based case-control study.

De Abajo FJ, Meseguer CM, Antiñolo G, García Rodríguez LA, Montero D, Castillo JR, Torelló J

Revista Internacional

The RET IVS1-126G>T variant is strongly associated with the development of sporadic medullary thyroid cancer.

Fernandez RM, Robledo M, Antinolo G, Pecina A, Ruiz-Llorente S, Eng C, Borrego S

Revista Internacional

Evaluation of germline sequence variants within the promoter region of RANTES gene in a cohort of women with endometriosis from Spain.

Antiñolo G, Fernández RM, Noval JA, García-Lozano JC, Borrego S, Marcos I, Moliní JL

Revista Internacional

Fluorescence resonance energy transfer analysis of the RANTES polymorphisms -403G --> A and -28G --> C: evaluation of both variants as susceptibility factors to HIV type 1 infection in the Spanish population.

Fernández RM, Borrego S, Marcos I, Rubio A, Lissen E, Antiñolo G

Revista Internacional

Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease.

Borrego S, Fernández RM, Dziema H, Niess A, López-Alonso M, Antiñolo G, Eng C

Revista Internacional

Molecular cloning and characterization of human RAB23, a member of the group of Rab GTPases.

Marcos I, Borrego S, Antiñolo G

Revista Internacional

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

Bernal S, Ayuso C, Antiñolo G, Gimenez A, Borrego S, Trujillo MJ, Marcos I, Calaf M, Del Rio E, Baiget M

Revista Internacional

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M

Revista Internacional

The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes.

Fernández RM, Antiñolo G, Eng C, Borrego S

Revista Internacional

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.

Borrego S, Wright FA, Fernández RM, Williams N, López-Alonso M, Davuluri R, Antiñolo G, Eng C